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Article: Skipping of exon 12 as a consequence of a point mutation (1898+5G→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family

TitleSkipping of exon 12 as a consequence of a point mutation (1898+5G→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family
Authors
KeywordsCFTR
Cystic fibrosis
Exon skipping
Splice mutation
Issue Date1995
PublisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGE
Citation
Clinical Genetics, 1995, v. 47 n. 3, p. 125-132 How to Cite?
AbstractA point mutation (1898+5G→T) located five base pairs downstream from the donor splice site in intron 12 of the CFTR gene has been identified in a consanguineous CF patient of Chinese origin. To determine if this nucleotide substitution could affect mRNA splicing, PCR analysis was performed with RNA isolated from the lymphoblastoid cell line of the mother of the deceased patient. While exon 12-minus transcript was detected in this sample, it was also found in individuals without 1898+5G→T, albeit in a smaller proportion. Using a sequence polymorphism associated with each of the two alleles in the mother, however, we showed that mutant transcript was almost exclusively produced by the 1898+5G→T allele. Skipping of exon 12 would result in the deletion of 29 amino acids from the first nucleotide binding domain of CFTR, rendering the protein non-functional. The possibility of a low level (≤2.5%) of normal transcript from the mutant allele cannot be excluded and it may explain the pancreatic sufficient phenotype of the patient. The 1898+5G→T mutation was found in two other CF patients of Chinese origin, but it was not detected in 192 CF chromosomes of Caucasian origin and 30 other chromosomes from Chinese individuals without a family history of CF.
Persistent Identifierhttp://hdl.handle.net/10722/44283
ISSN
2015 Impact Factor: 3.892
2015 SCImago Journal Rankings: 1.630
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorLin, SPen_HK
dc.contributor.authorHuang, FYen_HK
dc.contributor.authorYangFeng, TLen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:50:36Z-
dc.date.available2007-09-12T03:50:36Z-
dc.date.issued1995en_HK
dc.identifier.citationClinical Genetics, 1995, v. 47 n. 3, p. 125-132en_HK
dc.identifier.issn0009-9163en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44283-
dc.description.abstractA point mutation (1898+5G→T) located five base pairs downstream from the donor splice site in intron 12 of the CFTR gene has been identified in a consanguineous CF patient of Chinese origin. To determine if this nucleotide substitution could affect mRNA splicing, PCR analysis was performed with RNA isolated from the lymphoblastoid cell line of the mother of the deceased patient. While exon 12-minus transcript was detected in this sample, it was also found in individuals without 1898+5G→T, albeit in a smaller proportion. Using a sequence polymorphism associated with each of the two alleles in the mother, however, we showed that mutant transcript was almost exclusively produced by the 1898+5G→T allele. Skipping of exon 12 would result in the deletion of 29 amino acids from the first nucleotide binding domain of CFTR, rendering the protein non-functional. The possibility of a low level (≤2.5%) of normal transcript from the mutant allele cannot be excluded and it may explain the pancreatic sufficient phenotype of the patient. The 1898+5G→T mutation was found in two other CF patients of Chinese origin, but it was not detected in 192 CF chromosomes of Caucasian origin and 30 other chromosomes from Chinese individuals without a family history of CF.en_HK
dc.languageengen_HK
dc.publisherBlackwell Munksgaard. The Journal's web site is located at http://www.blackwellpublishing.com/journals/CGEen_HK
dc.relation.ispartofClinical Geneticsen_HK
dc.rightsFor full bibliographic citation, please refer to the version available at www.blackwell-synergy.comen_HK
dc.subjectCFTRen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectExon skippingen_HK
dc.subjectSplice mutationen_HK
dc.subject.meshCystic fibrosis - ethnology - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulatoren_HK
dc.subject.meshMembrane proteins - chemistry - geneticsen_HK
dc.subject.meshPoint mutationen_HK
dc.subject.meshPolymorphism, single-stranded conformationalen_HK
dc.titleSkipping of exon 12 as a consequence of a point mutation (1898+5G→T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese familyen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1111/j.1399-0004.1995.tb03944.x-
dc.identifier.pmid7543385-
dc.identifier.scopuseid_2-s2.0-0028933902en_HK
dc.identifier.volume47en_HK
dc.identifier.issue3en_HK
dc.identifier.spage125en_HK
dc.identifier.epage132en_HK
dc.identifier.isiWOS:A1995QW54100004-
dc.publisher.placeDenmarken_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridLin, SP=8580287400en_HK
dc.identifier.scopusauthoridHuang, FY=55238930500en_HK
dc.identifier.scopusauthoridYangFeng, TL=7006018350en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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